Impaired autophagy in Lafora disease

Erwin Knecht, Carmen Aguado, Sovan Sarkar, Viktor I Korolchuk, Olga Criado-García, Santiago Vernia, Patricia Boya, Pascual Sanz, Santiago Rodríguez de Córdoba, David C Rubinsztein

Research output: Contribution to journalArticle

21 Citations (Scopus)


Lafora disease (LD) is a progressive, lethal, autosomal recessive, neurodegenerative disorder that manifests with myoclonus epilepsy. LD is characterized by the presence of intracellular inclusion bodies called Lafora bodies (LB), in brain, spinal cord and other tissues. More than 50 percent of LD is caused by mutations in EPM2A that encodes laforin. Here we review our recent findings that revealed that laforin regulates autophagy. We consider how autophagy compromise may predispose to LB formation and neurodegeneration in LD, and discuss future investigations suggested by our data.

Original languageEnglish
Pages (from-to)991-3
Number of pages3
Issue number7
Publication statusPublished - Oct 2010


  • Animals
  • Autophagy
  • Carrier Proteins
  • Humans
  • Lafora Disease
  • Mice
  • Proteasome Endopeptidase Complex
  • Protein Tyrosine Phosphatases, Non-Receptor


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